M5L (p.Met5Leu) variant of RAG2 (P55895)
M5L (p.Met5Leu) in RAG2 (P55895) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Recombinase activating gene 2 deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, experimental measurements, and structural context.
M5L (p.Met5Leu) variant details
- p.Met5Leu
- rs1851109238
- ClinGen CA380145283
- ClinVar RCV002023203
- ClinVar RCV004765365
- Uncertain significance
- Recombinase activating gene 2 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.515
- AlphaMissense 0.13
- MetaLR 0.60
- MetaSVM 0.16
- PolyPhen-2 0.33
- SIFT 0.01
- MutPred 0.54
- ClinVar: Uncertain significance (Recombinase activating gene 2 deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- RAG2 Recombination activating protein 2, PHD domain domainome 1.0: score -0.554